BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

287 related articles for article (PubMed ID: 32025761)

  • 1. Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.
    Raja M; Kinne RKH
    J Membr Biol; 2020 Apr; 253(2):87-99. PubMed ID: 32025761
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Crystal structure of the human glucose transporter GLUT1.
    Deng D; Xu C; Sun P; Wu J; Yan C; Hu M; Yan N
    Nature; 2014 Jun; 510(7503):121-5. PubMed ID: 24847886
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pathogenic mutations causing glucose transport defects in GLUT1 transporter: The role of intermolecular forces in protein structure-function.
    Raja M; Kinne RK
    Biophys Chem; 2015; 200-201():9-17. PubMed ID: 25863194
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.
    Dozières-Puyravel B; Zaman S; Petrou S; François L; Vuillaumier-Barrot S; Mochel F; Gras D; Auvin S
    Brain Dev; 2019 Oct; 41(9):808-811. PubMed ID: 31196579
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
    Ivanova N; Peycheva V; Kamenarova K; Kancheva D; Tsekova I; Aleksandrova I; Hristova D; Litvinenko I; Todorova D; Sarailieva G; Dimova P; Tomov V; Bozhinova V; Mitev V; Kaneva R; Jordanova A
    Seizure; 2018 Jan; 54():41-44. PubMed ID: 29223885
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
    Furuse T; Mizuma H; Hirose Y; Kushida T; Yamada I; Miura I; Masuya H; Funato H; Yanagisawa M; Onoe H; Wakana S
    Dis Model Mech; 2019 Sep; 12(9):. PubMed ID: 31399478
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Therapeutic strategies for glucose transporter 1 deficiency syndrome.
    Tang M; Park SH; De Vivo DC; Monani UR
    Ann Clin Transl Neurol; 2019 Sep; 6(9):1923-1932. PubMed ID: 31464092
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.
    Tang M; Gao G; Rueda CB; Yu H; Thibodeaux DN; Awano T; Engelstad KM; Sanchez-Quintero MJ; Yang H; Li F; Li H; Su Q; Shetler KE; Jones L; Seo R; McConathy J; Hillman EM; Noebels JL; De Vivo DC; Monani UR
    Nat Commun; 2017 Jan; 8():14152. PubMed ID: 28106060
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.
    Klepper J
    Neuropediatrics; 2013 Aug; 44(4):235-6. PubMed ID: 23483445
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Erythroid glucose transport in health and disease.
    Guizouarn H; Allegrini B
    Pflugers Arch; 2020 Sep; 472(9):1371-1383. PubMed ID: 32474749
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice.
    Tang M; Park SH; Petri S; Yu H; Rueda CB; Abel ED; Kim CY; Hillman EM; Li F; Lee Y; Ding L; Jagadish S; Frankel WN; De Vivo DC; Monani UR
    JCI Insight; 2021 Feb; 6(3):. PubMed ID: 33351789
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
    Willemsen MA; Vissers LE; Verbeek MM; van Bon BW; Geuer S; Gilissen C; Klepper J; Kwint MP; Leen WG; Pennings M; Wevers RA; Veltman JA; Kamsteeg EJ
    Eur J Hum Genet; 2017 Jun; 25(6):771-774. PubMed ID: 28378819
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.
    Di Vito L; Licchetta L; Pippucci T; Baldassari S; Stipa C; Mostacci B; Alvisi L; Tinuper P; Bisulli F
    Epilepsy Behav; 2018 Feb; 79():169-173. PubMed ID: 29306089
    [No Abstract]   [Full Text] [Related]  

  • 14. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.
    Takahashi S; Matsufuji M; Yonee C; Tsuru H; Sano N; Oguni H
    Clin Genet; 2017 Jun; 91(6):932-933. PubMed ID: 28124377
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutation in a patient with late onset GLUT1 deficiency syndrome.
    Juozapaite S; Praninskiene R; Burnyte B; Ambrozaityte L; Skerliene B
    Brain Dev; 2017 Apr; 39(4):352-355. PubMed ID: 27927575
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
    Wang D; Yang H; Shi L; Ma L; Fujii T; Engelstad K; Pascual JM; De Vivo DC
    Pediatr Res; 2008 Nov; 64(5):538-43. PubMed ID: 18614966
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
    Lee EE; Ma J; Sacharidou A; Mi W; Salato VK; Nguyen N; Jiang Y; Pascual JM; North PE; Shaul PW; Mettlen M; Wang RC
    Mol Cell; 2015 Jun; 58(5):845-53. PubMed ID: 25982116
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.
    Wong HY; Law PY; Ho YY
    Mol Genet Metab; 2007 Feb; 90(2):193-8. PubMed ID: 17052934
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review.
    Klepper J; Voit T
    Eur J Pediatr; 2002 Jun; 161(6):295-304. PubMed ID: 12029447
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency.
    Akman CI; Provenzano F; Wang D; Engelstad K; Hinton V; Yu J; Tikofsky R; Ichese M; De Vivo DC
    Epilepsy Res; 2015 Feb; 110():206-15. PubMed ID: 25616474
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.